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Insights into the Genetics and Signaling Pathways in Maturity-Onset Diabetes of the Young

2022-11Recensão Acesso aberto
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dc.contributor.authorSousa, Madalena
dc.contributor.authorRego, Teresa
dc.contributor.authorArmas, Jácome Bruges
dc.contributor.institutionNOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)
dc.contributor.institutionComprehensive Health Research Centre (CHRC) - pólo NMS
dc.contributor.pblMDPI - Multidisciplinary Digital Publishing Institute
dc.date.accessioned2022-11-29T22:12:23Z
dc.date.available2022-11-29T22:12:23Z
dc.date.issued2022-11
dc.descriptionPublisher Copyright: © 2022 by the authors.
dc.description.abstractDiabetes Mellitus (DM) is a complex disease with a significant impact in today’s world. Studies have emphasized the crucial role of genetics in DM, unraveling the distinction of monogenic diabetes from the most common types that have been recognized over the years, such as type 1 diabetes (T1DM) and type 2 diabetes (T2DM). A literature search was carried out to scrutinize the subtypes of maturity-onset diabetes of the young (MODY), as well as the connection between the recognized genetic and molecular mechanisms responsible for such phenotypes. Thus far, 14 subtypes of MODY have been identified. Here, the authors review the pathophysiological and molecular pathways in which monogenic diabetes genes are involved. Despite being estimated to affect approximately 2% of all T2DM patients in Europe, the exact prevalence of MODY is still unknown, enhancing the need for research focused on biomarkers. Due to its impact in personalized medicine, a follow-up of associated complications, and genetic implications for siblings and offspring of affected individuals, it is imperative to diagnose the monogenic forms of DM accurately. Currently, advances in the genetics field has allowed for the recognition of new DM subtypes, which until now were considered to be slight variations of the typical forms. New molecular insights can define therapeutic strategies, aiming for the prevention, correction, or at least delay of β-cell dysfunction. Thus, it is imperative to act in the close interaction between genetics and clinical manifestations to improve diagnosis and individualize treatment.en
dc.description.versionpublishersversion
dc.description.versionpublished
dc.format.extent764767
dc.identifier.doi10.3390/ijms232112910
dc.identifier.issn1661-6596
dc.identifier.otherPURE: 47875856
dc.identifier.otherPURE UUID: 1043d4a7-9969-473f-8494-b9bf223aaf90
dc.identifier.otherScopus: 85141587119
dc.identifier.otherPubMed: 36361703
dc.identifier.otherWOS: 000883890700001
dc.identifier.urihttp://hdl.handle.net/10362/145892
dc.identifier.urlhttps://www.scopus.com/pages/publications/85141587119
dc.language.isoeng
dc.peerreviewedyes
dc.subjectdiabetes mellitus
dc.subjectgenetics
dc.subjectmaturity-onset diabetes of the young
dc.subjectmonogenic diabetes
dc.subjectCatalysis
dc.subjectMolecular Biology
dc.subjectSpectroscopy
dc.subjectComputer Science Applications
dc.subjectPhysical and Theoretical Chemistry
dc.subjectOrganic Chemistry
dc.subjectInorganic Chemistry
dc.subjectSDG 3 - Good Health and Well-being
dc.titleInsights into the Genetics and Signaling Pathways in Maturity-Onset Diabetes of the Youngen
dc.typereview
degois.publication.issue21
degois.publication.titleInternational Journal of Molecular Sciences
degois.publication.volume23
dspace.entity.typePublication
rcaap.rightsopenAccess

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